Canonical Allele Identifier: CA2135762

Gene: PAX3

Linked Data

• dbSNP Id: rs762048678
• ExAC: 2:223160375 T / G
• gnomAD v2: 2-223160375-T-G
• MyVariant Identifiers: chr2:g.223160375T>G (hg19) ; chr2:g.222295656T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222295656T>G , CM000664.2:g.222295656T>G	GRCh38
NC_000002.11:g.223160375T>G , CM000664.1:g.223160375T>G	GRCh37
NC_000002.10:g.222868619T>G	NCBI36
NG_011632.1:g.8326A>C
NG_021186.1:g.2510T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258387.6:c.323A>C	ENSP00000258387.5:p.Gln108Pro
ENST00000336840.11:c.323A>C	ENSP00000338767.5:p.Gln108Pro
ENST00000344493.9:c.323A>C	ENSP00000342092.4:p.Gln108Pro
ENST00000350526.9:c.323A>C	ENSP00000343052.4:p.Gln108Pro
ENST00000392070.7:c.323A>C MANE Select	ENSP00000375922.3:p.Gln108Pro
ENST00000647467.1:n.704A>C
ENST00000258387.5:c.323A>C	ENSP00000258387.5:p.Gln108Pro
ENST00000336840.10:c.323A>C	ENSP00000338767.5:p.Gln108Pro
ENST00000344493.8:c.323A>C	ENSP00000342092.4:p.Gln108Pro
ENST00000350526.8:c.323A>C	ENSP00000343052.4:p.Gln108Pro
ENST00000392069.6:c.323A>C	ENSP00000375921.2:p.Gln108Pro
ENST00000392070.6:c.323A>C	ENSP00000375922.2:p.Gln108Pro
ENST00000409551.7:c.322-2A>C	ENSP00000386750.3:n.322-2A>C
ENST00000409828.7:c.323A>C	ENSP00000386817.3:p.Gln108Pro
NM_000438.5:c.323A>C	NP_000429.2:p.Gln108Pro
NM_001127366.2:c.322-2A>C	NP_001120838.1:n.322-2A>C
NM_013942.4:c.323A>C	NP_039230.1:p.Gln108Pro
NM_181457.3:c.323A>C	NP_852122.1:p.Gln108Pro
NM_181458.3:c.323A>C	NP_852123.1:p.Gln108Pro
NM_181459.3:c.323A>C	NP_852124.1:p.Gln108Pro
NM_181460.3:c.323A>C	NP_852125.1:p.Gln108Pro
NM_181461.3:c.323A>C	NP_852126.1:p.Gln108Pro
XM_011511278.1:c.467A>C	XP_011509580.1:p.Gln156Pro
XM_011511280.1:c.467A>C	XP_011509582.1:p.Gln156Pro
XM_011511281.1:c.467A>C	XP_011509583.1:p.Gln156Pro
NM_000438.6:c.323A>C	NP_000429.2:p.Gln108Pro
NM_001127366.3:c.322-2A>C	NP_001120838.1:n.322-2A>C
NM_013942.5:c.323A>C	NP_039230.1:p.Gln108Pro
NM_181457.4:c.323A>C	NP_852122.1:p.Gln108Pro
NM_181458.4:c.323A>C MANE Select	NP_852123.1:p.Gln108Pro
NM_181459.4:c.323A>C	NP_852124.1:p.Gln108Pro
NM_181460.4:c.323A>C	NP_852125.1:p.Gln108Pro
NM_181461.4:c.323A>C	NP_852126.1:p.Gln108Pro